ClinVar Miner

List of variants reported as pathogenic for Breast-ovarian cancer, familial, susceptibility to, 1 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NC_000017.11:g.43045676_43045803del rs2152474705
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1510del (p.Arg504fs) rs80357908
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter) rs397508903
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs) rs80359879
NM_007294.4(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.4(BRCA1):c.2_80+4del rs2154576469
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter) rs1555581812
NM_007294.4(BRCA1):c.4803del (p.Val1602fs) rs1555580912
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5153-77_5193+4del rs2153552671
NM_007294.4(BRCA1):c.516del (p.Gln172fs) rs879254223
NM_007294.4(BRCA1):c.5194-1_5277+2del rs2153353204
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter) rs80357496
NM_007294.4(BRCA1):c.5296del (p.Ile1766fs) rs1555575732
NM_007294.4(BRCA1):c.5468-191_*2del rs2152476215
NM_007294.4(BRCA1):c.65_66insTA (p.Leu22fs) rs1567823254
NM_007294.4(BRCA1):c.81-1_134+2del rs2154565293
NM_007294.4(BRCA1):c.895_896del (p.Val299fs) rs80357670

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